The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

doi:10.1038/gim.2015.83

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Article

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016

Suerink Manon, van der Klift Heleen M, Ten Broeke Sanne W, Dekkers Olaf M, Bernstein Inge, Capellá Munar Gabriel, Gomez Garcia Encarna, Hoogerbrugge Nicoline, Letteboer Tom G W, Menko Fred H, Lindblom Annika, Mensenkamp Arjen, Moller Pal, van Os Theo A, Rahner Nils, Redeker Bert J W, Olderode-Berends M J W, Olderode Maran, Spruijt Liesbeth, Vos Yvonne J, Wagner Anja, Morreau Hans, Hes Frederik J, Vasen Hans F A, Tops Carli M, Wijnen Juul T, Nielsen Maartje

Abstract excerpt

PURPOSE: Lynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations in the PMS2 gene. We wished to establish whether genotype and/or parent-of-origin effects (POE) explain (part of) the reported variability in severity of the phenotype. METHODS: European PMS2 mutation carriers (n = 381) were grouped and compared...

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PMID: 26110232
DOI: 10.1038/gim.2015.83

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PMS2

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